A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375191



Internal ID22231741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81514046..81514167hg38UCSC Ensembl
chr1:81979731..81979852hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526081
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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